Canonical Allele Identifier: CA370602783
Gene: NKX2-6 HGNC NCBI

Linked Data

dbSNP Id: rs1220276549
gnomAD v2: 8-23560330-G-C
gnomAD v3: 8-23702817-G-C
gnomAD v4: 8-23702817-G-C
MyVariant Identifiers: chr8:g.23560330G>C (hg19) chr8:g.23702817G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.23702817G>C , CM000670.2:g.23702817G>C GRCh38
NC_000008.10:g.23560330G>C , CM000670.1:g.23560330G>C GRCh37
NC_000008.9:g.23616275G>C NCBI36
NG_030636.1:g.8782C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000325017.4:c.540C>G MANE Select ENSP00000320089.3:p.Phe180Leu
ENST00000325017.3:c.540C>G ENSP00000320089.3:p.Phe180Leu
NM_001136271.2:c.540C>G NP_001129743.2:p.Phe180Leu
XR_001745842.1:n.1312+34067G>C
NM_001136271.3:c.540C>G MANE Select NP_001129743.2:p.Phe180Leu
Search 100 bp 5'
Search 100 bp 3'